Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218677T>G , CM000676.2:g.93218677T>G | GRCh38 |
| NC_000014.8:g.93685023T>G , CM000676.1:g.93685023T>G | GRCh37 |
| NC_000014.7:g.92754776T>G | NCBI36 |
| NG_051089.1:g.16622T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.752T>G MANE Select | ENSP00000013070.6:p.Val251Gly | |
| ENST00000013070.10:c.752T>G | ENSP00000013070.6:p.Val251Gly | |
| ENST00000416753.5:c.524T>G | ENSP00000391706.2:p.Val175Gly | |
| ENST00000553674.1:c.*453T>G | ENSP00000450470.1:n.*453T>G | |
| ENST00000553857.5:c.378+3396T>G | ||
| NM_175748.3:c.752T>G | NP_786924.2:p.Val251Gly | |
| NR_038150.1:n.854T>G | ||
| NM_175748.4:c.752T>G MANE Select | NP_786924.2:p.Val251Gly | |
| NR_038150.2:n.654T>G |